Background: BRAFV600E (c.1799T>A) somatic mutation evaluation in fine needle aspiration biopsies (FNAB) is a powerful diagnostic tool in the settings of papillary thyroid cancer (PTC). However, its prognostic value is still a matter of great debate and has been addressed mostly in retrospective studies. Objectives: evaluate whether the somatic BRAFV600E mutation, assessed by direct sequencing in FNAB material of thyroid nodules, may correlate with disease persistence in PTC patients. Study design: We conducted a prospective cohort study investigating 160 PTC patients previously assessed for the somatic BRAFV600E mutation, and submitted to total thyroidectomy, with a follow-up of 2-10 years. Patients were matched according to somatic BRAFV600E mutation (80 BRAF+ and 80 BRAF- patients) and to the presence (LN+, 40 patients each group) or absence (LN, 40 patients each group) of neck lymphnode metastases. Disease persistence was considered according to basal or TSH-stimulated Thyroglobulin (TG) levels, anti-TG antibodies, neck ultrasound, CT scan where applicable and whole body scan after radioiodine ablation treatment (RAI). Results: The presence of the somatic BRAFV600E mutation did not influence the indication for RAI. None of the enrolled patients showed disease recurrence nor died due to disease-related causes. During follow-up disease persistence did not correlate with the presence of somatic BRAFV600E mutation both in patients submitted to RAI nor in those treated more conservatively. Conclusions: The somatic BRAFV600E mutation does not associate with a worse prognosis in low risk PTC and, in our settings, may not be considered an independent risk factor for disease persistence.

Evaluation of the Role of BRAFV600E Somatic Mutation on Papillary Thyroid Cancer Disease Persistence: A Prospective Study

Luca Damiani
Primo
Writing – Original Draft Preparation
;
Sabrina Lupo
Secondo
Investigation
;
Roberta Rossi;Mirco Bartolomei;Stefano Panareo
Membro del Collaboration Group
;
Paola Franceschetti
Membro del Collaboration Group
;
Paolo Carcoforo
Membro del Collaboration Group
;
Giovanni Lanza
Membro del Collaboration Group
;
Stefano Pelucchi
Membro del Collaboration Group
;
Ettore degli Uberti
Penultimo
Membro del Collaboration Group
;
Maria Chiara Zatelli
Ultimo
Writing – Review & Editing
2018

Abstract

Background: BRAFV600E (c.1799T>A) somatic mutation evaluation in fine needle aspiration biopsies (FNAB) is a powerful diagnostic tool in the settings of papillary thyroid cancer (PTC). However, its prognostic value is still a matter of great debate and has been addressed mostly in retrospective studies. Objectives: evaluate whether the somatic BRAFV600E mutation, assessed by direct sequencing in FNAB material of thyroid nodules, may correlate with disease persistence in PTC patients. Study design: We conducted a prospective cohort study investigating 160 PTC patients previously assessed for the somatic BRAFV600E mutation, and submitted to total thyroidectomy, with a follow-up of 2-10 years. Patients were matched according to somatic BRAFV600E mutation (80 BRAF+ and 80 BRAF- patients) and to the presence (LN+, 40 patients each group) or absence (LN, 40 patients each group) of neck lymphnode metastases. Disease persistence was considered according to basal or TSH-stimulated Thyroglobulin (TG) levels, anti-TG antibodies, neck ultrasound, CT scan where applicable and whole body scan after radioiodine ablation treatment (RAI). Results: The presence of the somatic BRAFV600E mutation did not influence the indication for RAI. None of the enrolled patients showed disease recurrence nor died due to disease-related causes. During follow-up disease persistence did not correlate with the presence of somatic BRAFV600E mutation both in patients submitted to RAI nor in those treated more conservatively. Conclusions: The somatic BRAFV600E mutation does not associate with a worse prognosis in low risk PTC and, in our settings, may not be considered an independent risk factor for disease persistence.
Damiani, Luca; Lupo, Sabrina; Rossi, Roberta; Bruni, Stefania; Bartolomei, Mirco; Panareo, Stefano; Franceschetti, Paola; Carcoforo, Paolo; Lanza, Giovanni; Pelucchi, Stefano; DEGLI UBERTI, Ettore; Zatelli, Maria Chiara
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2400537
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